{"id":"W4366483876","doi":"10.1016/j.gimo.2023.100810","title":"Mosaic variants detectable in blood extend the clinicogenetic spectrum of GLI3-related hypothalamic hamartoma","year":2023,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Hedgehog Signaling Pathway Studies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital","funders":"National Health and Medical Research Council; Cumming School of Medicine, University of Calgary; Australian Government; Murdoch Children's Research Institute; University of North Carolina at Chapel Hill; University of Melbourne; Medical Research Council; Alberta Children's Hospital Research Institute; Children’s Hospital of Wisconsin Research Institute","keywords":"Hypothalamic hamartoma; Mosaic; GLI3; Hamartoma; Biology; Computational biology; Genetics; Endocrinology; Art; Gene; Visual arts","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001117093,0.0003595436,0.0001439721,0.0007197727,0.0002131815,0.0001947767,0.0001425836,0.000279878,0.002703008],"category_scores_gemma":[0.000530748,0.000141453,0.0001262518,0.0003000829,0.0003818221,0.0001402379,0.0002358348,0.0001833704,0.0002694275],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001039685,"about_ca_system_score_gemma":0.0001134521,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000364882,"about_ca_topic_score_gemma":0.0006020436,"domain_scores_codex":[0.9998952,0.00001258042,0.00001219799,0.00003006802,0.00002760908,0.00002234747],"domain_scores_gemma":[0.999754,0.00007924293,0.00008574883,0.00001950505,0.00001747391,0.00004405585],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001108756,0.00008027857,0.4618372,0.0001271135,0.0001037884,0.1052955,0.0004128059,0.0003396729,0.4091879,0.000892184,0.0004097212,0.02020511],"study_design_scores_gemma":[0.00004271696,0.0002849918,0.4660344,0.0000378573,0.0001176642,0.4444277,0.0003735373,0.001227716,0.08373487,0.001440135,0.00225989,0.00001848344],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9979183,0.0003180291,0.0006672647,0.00003061878,0.00000575211,0.000005765356,0.0001052886,0.00002960979,0.0009194454],"genre_scores_gemma":[0.9994049,0.00004905411,0.0003837135,0.000008738883,0.000005020501,0.000001516395,0.00003773727,0.000004926444,0.000104451],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002703008,"threshold_uncertainty_score":0.009042501,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03683333469331219,"score_gpt":0.323547169900441,"score_spread":0.2867138352071288,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}